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Q9NNX1 (TUFT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tuftelin
Gene names
Name:TUFT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length390 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Involved in the mineralization and structural organization of enamel.

Subunit structure

Interacts with TFIP11 By similarity.

Subcellular location

Secreted By similarity. Note: Secreted at a very early stage of enamel formation, concentrated at the dentin-enamel junction and tightly bound to the surface of the growing crystallites By similarity.

Sequence similarities

Belongs to the tuftelin family.

Sequence caution

The sequence BAB15615.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processBiomineralization
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbone mineralization

Non-traceable author statement PubMed 12489194. Source: UniProtKB

odontogenesis

Non-traceable author statement PubMed 12489194. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from direct assay. Source: LIFEdb

extracellular region

Non-traceable author statement PubMed 12489194. Source: UniProtKB

   Molecular_functionstructural constituent of tooth enamel

Non-traceable author statement PubMed 12489194. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NNX1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9NNX1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     21-45: Missing.
Isoform 3 (identifier: Q9NNX1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     21-79: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 390390Tuftelin
PRO_0000183186

Regions

Coiled coil88 – 12639 Potential
Coiled coil162 – 351190 Potential

Natural variations

Alternative sequence21 – 7959Missing in isoform 3.
VSP_006686
Alternative sequence21 – 4525Missing in isoform 2.
VSP_006685
Natural variant181Q → R.
Corresponds to variant rs3828054 [ dbSNP | Ensembl ].
VAR_052424
Natural variant2961K → R.
Corresponds to variant rs16833395 [ dbSNP | Ensembl ].
VAR_034574

Experimental info

Sequence conflict2441Q → R in BAB15615. Ref.3
Sequence conflict3291K → T in BAB15615. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 332AF3C06665E8D0

FASTA39044,264
        10         20         30         40         50         60 
MNGTRNWCTL VDVHPEDQAA GSVDILRLTL QGELTGDELE HIAQKAGRKT YAMVSSHSAG 

        70         80         90        100        110        120 
HSLASELVES HDGHEEIIKV YLKGRSGDKM IHEKNINQLK SEVQYIQEAR NCLQKLREDI 

       130        140        150        160        170        180 
SSKLDRNLGD SLHRQEIQVV LEKPNGFSQS PTALYSSPPE VDTCINEDVE SLRKTVQDLL 

       190        200        210        220        230        240 
AKLQEAKRQH QSDCVAFEVT LSRYQREAEQ SNVALQREED RVEQKEAEVG ELQRRLLGME 

       250        260        270        280        290        300 
TEHQALLAKV REGEVALEEL RSNNADCQAE REKAATLEKE VAGLREKIHH LDDMLKSQQR 

       310        320        330        340        350        360 
KVRQMIEQLQ NSKAVIQSKD ATIQELKEKI AYLEAENLEM HDRMEHLIEK QISHGNFSTQ 

       370        380        390 
ARAKTENPGS IRISKPPSPK PMPVIRVVET 

« Hide

Isoform 2 [UniParc].

Checksum: 3A12985BF4AC3033
Show »

FASTA36541,546
Isoform 3 [UniParc].

Checksum: 9F858A5CE5FBB30A
Show »

FASTA33137,929

References

« Hide 'large scale' references
[1]"The human tuftelin gene: cloning and characterization."
Mao Z., Shay B., Hekmati M., Fermon E., Taylor A., Dafni L., Heikinheimo K., Lustmann J., Fisher L.W., Young M.F., Deutsch D.
Gene 279:181-196(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3).
[2]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Uterus.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Hepatoma and Tongue.
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Kidney and Placenta.
[7]"Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization."
Deutsch D., Palmon A., Young M.F., Selig S., Kearns W.G., Fisher L.W.
Mamm. Genome 5:461-462(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF254860 expand/collapse EMBL AC list , AF254850, AF254851, AF254852, AF254854, AF254855, AF254856, AF254857, AF254858, AF254859 Genomic DNA. Translation: AAF78914.1.
AF254260 mRNA. Translation: AAF78913.1.
AL136917 mRNA. Translation: CAB66851.1.
AK026989 mRNA. Translation: BAB15615.1. Different initiation.
AK075001 mRNA. Translation: BAC11346.1.
AK315414 mRNA. Translation: BAG37804.1.
AL365436 Genomic DNA. Translation: CAI16591.1.
AL365436 Genomic DNA. Translation: CAI16592.1.
CH471121 Genomic DNA. Translation: EAW53429.1.
CH471121 Genomic DNA. Translation: EAW53430.1.
CH471121 Genomic DNA. Translation: EAW53431.1.
CH471121 Genomic DNA. Translation: EAW53433.1.
BC002933 mRNA. Translation: AAH02933.1.
BC008301 mRNA. Translation: AAH08301.1.
CCDSCCDS1000.1. [Q9NNX1-1]
CCDS44223.1. [Q9NNX1-2]
RefSeqNP_001119809.1. NM_001126337.1. [Q9NNX1-2]
NP_064512.1. NM_020127.2. [Q9NNX1-1]
UniGeneHs.489922.

3D structure databases

ProteinModelPortalQ9NNX1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113137. 6 interactions.
IntActQ9NNX1. 5 interactions.
MINTMINT-4716691.
STRING9606.ENSP00000357842.

PTM databases

PhosphoSiteQ9NNX1.

Polymorphism databases

DMDM22096213.

Proteomic databases

MaxQBQ9NNX1.
PaxDbQ9NNX1.
PRIDEQ9NNX1.

Protocols and materials databases

DNASU7286.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000353024; ENSP00000343781; ENSG00000143367. [Q9NNX1-3]
ENST00000368848; ENSP00000357841; ENSG00000143367. [Q9NNX1-2]
ENST00000368849; ENSP00000357842; ENSG00000143367. [Q9NNX1-1]
GeneID7286.
KEGGhsa:7286.
UCSCuc001eyl.3. human. [Q9NNX1-1]
uc001eym.3. human. [Q9NNX1-2]

Organism-specific databases

CTD7286.
GeneCardsGC01P151513.
HGNCHGNC:12422. TUFT1.
HPAHPA028112.
MIM600087. gene.
neXtProtNX_Q9NNX1.
PharmGKBPA37084.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40140.
HOVERGENHBG056992.
InParanoidQ9NNX1.
OrthoDBEOG7CZK5X.
PhylomeDBQ9NNX1.
TreeFamTF331627.

Gene expression databases

ArrayExpressQ9NNX1.
BgeeQ9NNX1.
CleanExHS_TUFT1.
GenevestigatorQ9NNX1.

Family and domain databases

InterProIPR024846. Tuftelin.
[Graphical view]
PANTHERPTHR23171:SF4. PTHR23171:SF4. 1 hit.
ProtoNetSearch...

Other

ChiTaRSTUFT1. human.
GeneWikiTuftelin.
GenomeRNAi7286.
NextBio28487.
PROQ9NNX1.
SOURCESearch...

Entry information

Entry nameTUFT1_HUMAN
AccessionPrimary (citable) accession number: Q9NNX1
Secondary accession number(s): B2RD57 expand/collapse secondary AC list , D3DV21, D3DV22, Q5T384, Q5T385, Q9BU28, Q9H5L1
Entry history
Integrated into UniProtKB/Swiss-Prot: August 2, 2002
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM